Results 91 to 100 of about 1,718,768 (214)

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2017
Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD, Carolina S. Aranda MD, MSc, Sandra O. Kyosen MD, MSc, Patricia Varela MSc, Vanessa G. Pereira PhD, Vania D’Almeida PhD, João B. Pesquero PhD, Ana M. Martins MD, PhD   +7 more
doaj   +1 more source

Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia

, 2016
Background: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb).
FORMISANO, PIETRO, ROSSI, ALESSANDRO, RUOPPOLO, MARGHERITA, VILLANI, GUGLIELMO ROSARIO DOMENI, MELIS, DANIELA, Moccia, A., STRISCIUGLIO, PIETRO, Albano, L., Gallo, G., PARENTI, GIANCARLO   +9 more
core  

Modelling Inborn Errors of Metabolism in Zebrafish

, 2014
The majority of human inborn errors of metabolism are fatal multisystem disorders that lack proper treatment and have a poorly understood mechanistic basis.
Russell, C, Wager, K, Mahmood, Fahad, Wager, Kim, Kim Wager, Fahad Mahmood, Russell, Claire, Mahmood, F, Claire Russell   +8 more
core   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study

Frontiers in Psychiatry
BackgroundClassical galactosemia (CG) is a rare inherited metabolic disorder associated with long-term neurodevelopmental, language, cognitive and psychosocial difficulties.
Aleksandra Gozdanek, Amanda Krzywdzińska-Rogowska, Barbara Remberk, Anna Bauer, Jolanta Sykut-Cegielska   +4 more
doaj   +1 more source

Inborn errors of metabolism in the differential diagnosis of fatty liver disease

, 2020
Nonalcoholic fatty liver disease (NAFLD) has become the most common chronic liver disease across all age groups. Obesity, diabetes, and metabolic syndrome, are the primary causes that are closely linked with the development of NAFLD.
YILDIZ, YILMAZ, SİVRİ, HATİCE SERAP, Yılmaz Yıldız, Hatice Serap Sivri   +3 more
core   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

A randomized controlled trial of a multimodality digital health intervention to aid the delivery of the modified ketogenic diet therapy for epilepsy: The Keto eCoach trial protocol

Epilepsia Open, EarlyView.
Abstract Objective Dietary therapy is an effective treatment for drug‐resistant epilepsy; however, low adherence presents a significant barrier to use in the clinical setting. This study aims to evaluate a multimodality digital health intervention to overcome this barrier and improve outcomes in adults undertaking the modified ketogenic diet for ...
Neha Kaul, Lucy Vivash, Susanna Chen, Lillian King, Hannah Johns, Leonid Churilov, Zhibin Chen, John‐Paul Nicolo, Danielle Heaven, Ella Meredith, Ryan Ervine, Lisa Todd, Bernadette Zappa, Zanfina Ademi, Gopisankar Mohanannair Geethadevi, Michael Erlichster, Efstratios Skafidas, Terence J. O'Brien, Patrick Kwan   +18 more
wiley   +1 more source

Metabolic interplay between peroxisomes and other subcellular organelles including mitochondria and the endoplasmic reticulum [PDF]

, 2016
Peroxisomes are unique subcellular organelles which play an indispensable role in several key metabolic pathways which include: (1.) etherphospholipid biosynthesis; (2.) fatty acid beta-oxidation; (3.) bile acid synthesis; (4.) docosahexaenoic acid (DHA)
Ronald J. A. Wanders, Waterham, Hans R., Wanders, Ronald J. A., Ronald J. A. Wanders, Ronald J.A. Wanders, Sacha eFerdinandusse, Ferdinandusse, Sacha, Sacha Ferdinandusse, Hans R. Waterham   +8 more
core   +1 more source